新功能、新界面、新体验,扫描即可下载生物谷APP!
首页 » Frontiers in Genetics :超级百岁老人常见的疾病遗传易感性

Frontiers in Genetics :超级百岁老人常见的疾病遗传易感性

来源:生物谷 2012-01-20 10:58

根据由波士顿医学研究中心(BMC)和波士顿大学公共健康与医学学院开展一项新研究,不寻常的和共同的遗传现象有助于人类更长寿。

一月三日发表在Frontiers in Genetics上的一项研究,报道了一项整个基因组序列的全面分析,这个分析关于年龄超过114岁的男性和女性的基因组。超级百岁老人(110岁以上)是非常罕见的,在发达国家的出现率为每五百万中出现一人,有越来越多的证据支持这些老人的生存受很强的遗传影响。

研究表明,尽管2个超级百岁老人携带有与普通人一样多的疾病相关基因,他们的长寿表明其他保护机制在起作用。

男性受试者有与结肠癌风险性增加相关的37个基因突变,表明他对年龄相关疾病没有免疫。"事实上,他早期出现过阻塞性结肠癌,这个癌没有转移,通过手术治愈。他处在接近他逝世时候的现象认知和身体形状",Thomas Perls博士说,他是新英格兰百岁老人研究的主任和本文的通讯作者。

女性超级百岁老人也有许多与年龄相关疾病的遗传变异,包括那些与老年痴呆症、癌症和心脏病风险性增加的。她有充血性心力衰竭和轻度认知缺损,但这些疾病直到108岁才变得明显。

"这些疾病相关变异的存在与我们和其他研究人员的发现是一致的,即百岁老人携带有与一般人群一样多的疾病相关基因",Perls说,"这种差异可能是百岁老人可能有抵偿疾病基因的长寿相关变异。这种作用可以延伸至疾病没有出现--或者,就算他们这样做,致病性也会更小或明显推迟生命终点,在那些实际生活到人类寿命极限的个人。"

"研究这些百岁老人仅仅是一个开始,还需要完成更多这样主题的遗传研究",Perls补充说。

提供给世界各地研究人员的研究数据保存在国家卫生研究院(美国国立卫生研究院)的数据库里。(生物谷bioon.com)

Whole genome sequences of a male and female supercentenarian, ages greater than 114 years

Paola Sebastiani, Alberto Riva, Monty Montano, Phillip Pham, Ali Torkamani, Eugene Scherba, Gary Benson, Jacqueline N. Milton, Clinton T. Baldwin, Stacy Andersen, Nicholas J. Schork, Martin H. Steinberg, Thomas T. Perls

Supercentenarians (age 110+ years old) generally delay or escape age-related diseases and disability well beyond the age of 100 and this exceptional survival is likely to be influenced by a genetic predisposition that includes both common and rare genetic variants. In this report, we describe the complete genomic sequences of male and female supercentenarians, both age >114 years old. We show that: (1) the sequence variant spectrum of these two individuals' DNA sequences is largely comparable to existing non-supercentenarian genomes; (2) the two individuals do not appear to carry most of the well-established human longevity enabling variants already reported in the literature; (3) they have a comparable number of known disease-associated variants relative to most human genomes sequenced to-date; (4) approximately 1% of the variants these individuals possess are novel and may point to new genes involved in exceptional longevity; and (5) both individuals are enriched for coding variants near longevity-associated variants that we discovered through a large genome-wide association study. These analyses suggest that there are both common and rare longevity-associated variants that may counter the effects of disease-predisposing variants and extend lifespan. The continued analysis of the genomes of these and other rare individuals who have survived to extremely old ages should provide insight into the processes that contribute to the maintenance of health during extreme aging.

温馨提示:87%用户都在生物谷APP上阅读,扫描立刻下载! 天天精彩!


相关标签

最新会议 培训班 期刊库